FRUCT
MCID: FRC005
MIFTS: 37

Fructosuria, Essential (FRUCT)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Fructosuria, Essential

MalaCards integrated aliases for Fructosuria, Essential:

Name: Fructosuria, Essential 57 29 6 39
Ketohexokinase Deficiency 57 12 20 58
Essential Fructosuria 12 20 58 15
Fructosuria 57 74 73 44
Hepatic Fructokinase Deficiency 57 12 20
Fructokinase Deficiency 12 20 58
Essential Benign Fructosuria 20
Deficiency of Fructokinase 71
Fruct 73

Characteristics:

Orphanet epidemiological data:

58
essential fructosuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
benign, asymptomatic defect


HPO:

31
fructosuria, essential:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111680
OMIM® 57 229800
MeSH 44 C538068
SNOMED-CT 67 124300009
ICD10 32 E74.11
MESH via Orphanet 45 C538068
ICD10 via Orphanet 33 E74.1
UMLS via Orphanet 72 C0268160
Orphanet 58 ORPHA2056
MedGen 41 C0268160
SNOMED-CT via HPO 68 258211005
UMLS 71 C0268160

Summaries for Fructosuria, Essential

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2056DefinitionEssential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Fructosuria, Essential, also known as ketohexokinase deficiency, is related to fructose intolerance, hereditary and non-alcoholic fatty liver disease. An important gene associated with Fructosuria, Essential is KHK (Ketohexokinase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and NRF2 pathway. Affiliated tissues include liver, and related phenotype is impairment of fructose metabolism.

Disease Ontology : 12 A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has material basis in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.

OMIM® : 57 Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994). (229800) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Fructosuria: Benign defect of intermediary metabolism.

Wikipedia : 74 Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign... more...

Related Diseases for Fructosuria, Essential

Diseases related to Fructosuria, Essential via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 fructose intolerance, hereditary 30.2 SLC2A5 KHK
2 non-alcoholic fatty liver disease 28.9 MLXIPL KHK GCKR
3 pentosuria 10.0
4 fatty liver disease, nonalcoholic 1 9.9
5 cholecystitis 9.9
6 glycogen storage disease 9.9
7 pulmonary tuberculosis 9.9
8 carbohydrate metabolic disorder 9.9
9 lipid metabolism disorder 9.9
10 pyoderma 9.9
11 connective tissue disease 9.9
12 inherited metabolic disorder 9.9
13 hypoglycemia 9.9

Graphical network of the top 20 diseases related to Fructosuria, Essential:



Diseases related to Fructosuria, Essential

Symptoms & Phenotypes for Fructosuria, Essential

Human phenotypes related to Fructosuria, Essential:

31
# Description HPO Frequency HPO Source Accession
1 impairment of fructose metabolism 31 HP:0011033

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
fructosuria

Clinical features from OMIM®:

229800 (Updated 05-Mar-2021)

Drugs & Therapeutics for Fructosuria, Essential

Search Clinical Trials , NIH Clinical Center for Fructosuria, Essential

Cochrane evidence based reviews: fructosuria

Genetic Tests for Fructosuria, Essential

Genetic tests related to Fructosuria, Essential:

# Genetic test Affiliating Genes
1 Fructosuria, Essential 29 KHK

Anatomical Context for Fructosuria, Essential

MalaCards organs/tissues related to Fructosuria, Essential:

40
Liver

Publications for Fructosuria, Essential

Articles related to Fructosuria, Essential:

# Title Authors PMID Year
1
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). 6 57
7833921 1994
2
Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy. 57
7816517 1994
3
The diagnosis of hereditary fructose intolerance. 57
6268573 1981
4
NONALIMENTARY FRUCTOSURIA. 57
14063525 1963
5
Essential benign fructosuria. 57
13759156 1961
6
Tissue-Specific Fructose Metabolism in Obesity and Diabetes. 61
33057854 2020
7
Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. 61
12941785 2003

Variations for Fructosuria, Essential

ClinVar genetic disease variations for Fructosuria, Essential:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KHK NM_006488.3(KHK):c.118G>A (p.Gly40Arg) SNV Affects 12031 rs104893643 2:27315225-27315225 2:27092357-27092357
2 KHK NM_006488.3(KHK):c.127G>A (p.Ala43Thr) SNV Affects 12032 rs104893644 2:27315234-27315234 2:27092366-27092366
3 CGREF1 NM_006488.3(KHK):c.680_682AGG[1] (p.Glu228del) Microsatellite Uncertain significance 335496 rs745546639 2:27322313-27322315 2:27099445-27099447
4 CGREF1 NM_006488.3(KHK):c.*49C>T SNV Uncertain significance 335503 rs776688675 2:27322667-27322667 2:27099799-27099799
5 KHK NM_006488.3(KHK):c.500G>A (p.Arg167Gln) SNV Uncertain significance 335492 rs201707861 2:27320453-27320453 2:27097585-27097585
6 CGREF1 NM_006488.3(KHK):c.*326G>A SNV Uncertain significance 335509 rs148558475 2:27322944-27322944 2:27100076-27100076
7 CGREF1 NM_006488.3(KHK):c.*159G>A SNV Uncertain significance 335506 rs886055892 2:27322777-27322777 2:27099909-27099909
8 KHK NM_006488.3(KHK):c.463G>A (p.Ala155Thr) SNV Uncertain significance 335489 rs776211460 2:27320416-27320416 2:27097548-27097548
9 CGREF1 NM_006488.3(KHK):c.*810A>C SNV Uncertain significance 335518 rs543665606 2:27323428-27323428 2:27100560-27100560
10 CGREF1 NM_006488.3(KHK):c.818G>A (p.Ser273Asn) SNV Uncertain significance 335498 rs575951862 2:27322539-27322539 2:27099671-27099671
11 KHK NM_006488.3(KHK):c.643G>C (p.Val215Leu) SNV Uncertain significance 335495 rs886055889 2:27322142-27322142 2:27099274-27099274
12 KHK NM_006488.3(KHK):c.-97G>A SNV Uncertain significance 335480 rs886055885 2:27310031-27310031 2:27087163-27087163
13 KHK NM_006488.3(KHK):c.210-283C>T SNV Uncertain significance 335486 rs886055886 2:27317385-27317385 2:27094517-27094517
14 KHK NM_006488.3(KHK):c.210-245C>G SNV Uncertain significance 335487 rs202153228 2:27317423-27317423 2:27094555-27094555
15 KHK NM_006488.3(KHK):c.210-334C>T SNV Uncertain significance 335484 rs368871098 2:27317334-27317334 2:27094466-27094466
16 KHK NM_006488.3(KHK):c.-15T>G SNV Uncertain significance 335481 rs763655731 2:27310113-27310113 2:27087245-27087245
17 CGREF1 NM_006488.3(KHK):c.*198A>C SNV Uncertain significance 335507 rs886055893 2:27322816-27322816 2:27099948-27099948
18 CGREF1 NM_006488.3(KHK):c.*52C>T SNV Uncertain significance 335504 rs747976594 2:27322670-27322670 2:27099802-27099802
19 CGREF1 NM_006488.3(KHK):c.*791G>A SNV Uncertain significance 335516 rs886055894 2:27323409-27323409 2:27100541-27100541
20 CGREF1 NM_006488.3(KHK):c.*469G>A SNV Uncertain significance 335510 rs187387157 2:27323087-27323087 2:27100219-27100219
21 KHK NM_006488.3(KHK):c.473C>A (p.Thr158Asn) SNV Uncertain significance 335490 rs773003580 2:27320426-27320426 2:27097558-27097558
22 CGREF1 NM_006488.3(KHK):c.820G>A (p.Val274Met) SNV Uncertain significance 335499 rs138164728 2:27322541-27322541 2:27099673-27099673
23 KHK NM_006488.3(KHK):c.-140G>A SNV Uncertain significance 335479 rs886055884 2:27309988-27309988 2:27087120-27087120
24 KHK NM_006488.3(KHK):c.-379T>A SNV Uncertain significance 335476 rs886055883 2:27309749-27309749 2:27086881-27086881
25 CGREF1 NM_006488.3(KHK):c.*28T>C SNV Uncertain significance 335502 rs745543858 2:27322646-27322646 2:27099778-27099778
26 CGREF1 NM_006488.3(KHK):c.*200A>G SNV Uncertain significance 335508 rs751205514 2:27322818-27322818 2:27099950-27099950
27 KHK NM_006488.3(KHK):c.210-211C>T SNV Uncertain significance 335488 rs141417422 2:27317457-27317457 2:27094589-27094589
28 KHK NM_006488.3(KHK):c.557G>A (p.Gly186Glu) SNV Uncertain significance 335494 rs886055888 2:27320510-27320510 2:27097642-27097642
29 KHK NM_006488.3(KHK):c.499C>T (p.Arg167Trp) SNV Uncertain significance 335491 rs886055887 2:27320452-27320452 2:27097584-27097584
30 KHK NM_006488.3(KHK):c.15G>A (p.Gln5=) SNV Uncertain significance 895295 2:27310142-27310142 2:27087274-27087274
31 KHK NM_006488.3(KHK):c.19C>T (p.Leu7=) SNV Uncertain significance 895296 2:27310146-27310146 2:27087278-27087278
32 CGREF1 NM_006488.3(KHK):c.687C>T (p.Gly229=) SNV Uncertain significance 895373 2:27322321-27322321 2:27099453-27099453
33 CGREF1 NM_006488.3(KHK):c.688G>A (p.Ala230Thr) SNV Uncertain significance 895374 2:27322322-27322322 2:27099454-27099454
34 CGREF1 NM_006488.3(KHK):c.698T>G (p.Leu233Arg) SNV Uncertain significance 895375 2:27322332-27322332 2:27099464-27099464
35 CGREF1 NM_006488.3(KHK):c.826G>A (p.Glu276Lys) SNV Uncertain significance 895377 2:27322547-27322547 2:27099679-27099679
36 CGREF1 NM_006488.3(KHK):c.*896T>G SNV Uncertain significance 895443 2:27323514-27323514 2:27100646-27100646
37 KHK NM_006488.3(KHK):c.48C>T (p.Val16=) SNV Uncertain significance 896715 2:27310175-27310175 2:27087307-27087307
38 KHK NM_006488.3(KHK):c.101C>A (p.Ser34Tyr) SNV Uncertain significance 896716 2:27315208-27315208 2:27092340-27092340
39 CGREF1 NM_006488.3(KHK):c.866G>A (p.Cys289Tyr) SNV Uncertain significance 896778 2:27322587-27322587 2:27099719-27099719
40 CGREF1 NM_006488.3(KHK):c.*11C>T SNV Uncertain significance 896780 2:27322629-27322629 2:27099761-27099761
41 CGREF1 NM_006488.3(KHK):c.*954C>T SNV Uncertain significance 896844 2:27323572-27323572 2:27100704-27100704
42 KHK NM_006488.3(KHK):c.210-253G>A SNV Uncertain significance 897186 2:27317415-27317415 2:27094547-27094547
43 KHK NM_006488.3(KHK):c.210-200A>G SNV Uncertain significance 897187 2:27317468-27317468 2:27094600-27094600
44 KHK NM_006488.3(KHK):c.210-199T>C SNV Uncertain significance 897188 2:27317469-27317469 2:27094601-27094601
45 KHK NM_006488.3(KHK):c.470A>C (p.Asn157Thr) SNV Uncertain significance 897189 2:27320423-27320423 2:27097555-27097555
46 CGREF1 NM_006488.3(KHK):c.*176G>A SNV Uncertain significance 897260 2:27322794-27322794 2:27099926-27099926
47 CGREF1 NM_006488.3(KHK):c.*214G>A SNV Uncertain significance 897261 2:27322832-27322832 2:27099964-27099964
48 CGREF1 NM_006488.3(KHK):c.*259T>G SNV Uncertain significance 897262 2:27322877-27322877 2:27100009-27100009
49 KHK NM_006488.3(KHK):c.507C>T (p.Ser169=) SNV Uncertain significance 898355 2:27320460-27320460 2:27097592-27097592
50 KHK NM_006488.3(KHK):c.562G>A (p.Val188Met) SNV Uncertain significance 898356 2:27320515-27320515 2:27097647-27097647

UniProtKB/Swiss-Prot genetic disease variations for Fructosuria, Essential:

73
# Symbol AA change Variation ID SNP ID
1 KHK p.Gly40Arg VAR_006072 rs104893643
2 KHK p.Ala43Thr VAR_006073 rs104893644

Expression for Fructosuria, Essential

Search GEO for disease gene expression data for Fructosuria, Essential.

Pathways for Fructosuria, Essential

GO Terms for Fructosuria, Essential

Biological processes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.56 SLC2A5 PFKL KHK GCKR
2 response to glucose GO:0009749 9.43 PFKL KHK
3 triglyceride homeostasis GO:0070328 9.4 MLXIPL GCKR
4 hexose transmembrane transport GO:0008645 9.37 SLC2A7 SLC2A11
5 carbohydrate transport GO:0008643 9.33 SLC2A7 SLC2A5 SLC2A11
6 fructose transmembrane transport GO:0015755 9.32 SLC2A7 SLC2A5
7 glucose transmembrane transport GO:1904659 9.13 SLC2A7 SLC2A5 SLC2A11
8 response to fructose GO:0009750 8.8 SLC2A5 KHK GCKR

Molecular functions related to Fructosuria, Essential according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.5 SLC2A7 SLC2A5 SLC2A11
2 fructose binding GO:0070061 9.26 SLC2A5 PFKL
3 fructose-6-phosphate binding GO:0070095 9.16 PFKL GCKR
4 fructose transmembrane transporter activity GO:0005353 8.96 SLC2A7 SLC2A5
5 glucose transmembrane transporter activity GO:0005355 8.8 SLC2A7 SLC2A5 SLC2A11

Sources for Fructosuria, Essential

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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